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Spasmodic torticollis is a chronic neurological movement disorder causing the neck to involuntarily turn to the left, right, upwards, and/or downwards. The condition is also referred to as “cervical dystonia”. Both agonist and antagonist muscle contract simultaneously during dystonic movement. [1] Causes of the disorder are predominantly idiopathic, a small number of patients develop the disorder as a result of another disorder or disease. Most patients first experience symptoms midlife. The most common treatment for spasmodic torticollis is the use of botulinum toxin type A.
Initial symptoms of spasmodic torticollis are usually mild. The head may turn or tilt in jerky movements, or sustain a prolonged position involuntarily. Over time, the involuntary spasm of the neck muscles will increase in frequency and strength until it reaches a plateau. Symptoms can also worsen while the patient is walking or when during periods of increased stress. Other symptoms include muscle hypertrophy, neck pain, and tremor. [2] Studies have shown that over 75% of patients report neck pain, [1] and 33% to 40% experience tremor of the head. [3]
Spasmodic torticollis is one of the most common forms of dystonia seen in neurology clinics, occurring in approximately 0.390% of the United States population in 2007 (390 per 100,000). [3]Worldwide, it has been reported that the incidence rate of spasmodic torticollis is at least 1.2 per 100,000 person years, [4] and a prevalence rate of 57 per 1 million. [5] The exact prevalence of the disorder is not known; several family and population studies show that as many as 25% of cervical dystonia patients have relatives that are undiagnosed. [6] [7] Studies have shown that spasmodic torticollis is not diagnosed immediately; many patients are diagnosed well after a year of seeking medical attention. [1] A survey of 59 patients diagnosed with spasmodic torticollis show that 43% of the patients visited at least four physicians before the diagnosis was made. [8] There is a higher prevalence of spasmodic torticollis in females; females are 1.5 times more likely to develop spasmodic torticollis than males. The prevalence rate of spasmodic torticollis also increases with age, most patients show symptoms from ages 50-69. The average onset age of spasmodic torticollis is 41.[1]
Spasmodic torticollis is a form of focal dystonia, a disorder that is described by sustained muscle contractions causing repetitive and twisting movements, and abnormal postures in a single body region. [9] There are two main ways to categorize spasmodic torticollis: age of onset, and cause. The disorder is categorized as early onset if the patient is diagnosed before the age of 27, and late onset there after. The causes are categorized as either primary (idiopathic) or secondary (symptomatic). Spasmodic torticollis can be further categorized by the direction and rotation of head movement.
Primary spasmodic torticollis is defined a having no other abnormality other than dystonic movement and occasional tremor in the neck.[1] This type of spasmodic torticollis is usually inherited. Studies have shown that the DYT7 locus on chromosome 18p in a German family and the DYT13 locus on chromosome 1p36 in an Italian family is associated with spasmodic torticollis. The inheritance for both loci is autosomal dominant. These loci are all autosomal dominant inherited with reduced penetrance. Although these loci have been found, it is still not clear the extent of influence the loci has on spasmodic torticollis. [10]
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